Jones Katherine, Keiser Amaris M, Miller Jena L, Atkinson Meredith A
Department of Pediatrics, F. Edward Hébert School of Medicine, Uniformed Services University, Tripler Army Medical Center, 1 Jarrett White Rd., Honolulu, HI, 96859, USA.
Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Pediatr Nephrol. 2025 Feb;40(2):329-338. doi: 10.1007/s00467-024-06449-8. Epub 2024 Jul 13.
Bilateral renal agenesis (BRA) is a fetal anomaly which leads to anhydramnios and resultant pulmonary hypoplasia. Historically, this anomaly was universally fatal early in the neonatal period due to the severity of the associated lung disease. Over the last 30 years, innovations in fetal therapies-specifically, serial amnioinfusions-have led to instances of infant pulmonary survival and initiation of postnatal dialysis, raising the possibility that early neonatal death may not be inevitable. Amnioinfusions are not without risk, and maternal complications can include prelabor rupture of membranes, preterm labor, infection, and bleeding. The data detailing neonatal outcomes are still limited and actively being collected. Two case series and one non-randomized clinical trial have supplied most of the known outcome data for infants with BRA after prenatal amnioinfusion. Although there are survivors reported in the literature, mortality remains high, with many deaths in infancy due to dialysis-associated sepsis. In addition, previously unknown morbidities have been documented in these infants, including neurologic injury. These challenges, in addition to the mechanical difficulties of providing dialysis to extremely small infants, can result in significant burdens for patients and their caregivers and moral distress for the health care team. The present review aims to explain the pathophysiology of BRA, detail the historical context and rationale for serial amnioinfusions to treat the pulmonary insufficiency associated with BRA, describe the available data regarding outcomes of infants born following prenatal amnioinfusions, discuss ethical issues surrounding this fetal intervention, and describe critical aspects of prenatal counseling for patients considering the intervention.
双侧肾缺如(BRA)是一种胎儿异常,可导致羊水过少及由此引起的肺发育不全。从历史上看,由于相关肺部疾病的严重性,这种异常在新生儿早期普遍是致命的。在过去30年里,胎儿治疗方面的创新——特别是连续羊膜腔灌注——已导致婴儿肺部存活及出生后开始透析的情况出现,这增加了新生儿早期死亡可能并非不可避免的可能性。羊膜腔灌注并非没有风险,母体并发症可能包括胎膜早破、早产、感染和出血。详细描述新生儿结局的数据仍然有限,且正在积极收集。两个病例系列和一项非随机临床试验提供了产前羊膜腔灌注后BRA婴儿的大部分已知结局数据。尽管文献中有存活者的报道,但死亡率仍然很高,许多婴儿死于透析相关的败血症。此外,这些婴儿还出现了以前未知的疾病,包括神经损伤。除了为极小婴儿提供透析的机械困难外,这些挑战还可能给患者及其护理人员带来巨大负担,并给医疗团队带来道德困扰。本综述旨在解释BRA的病理生理学,详述连续羊膜腔灌注治疗与BRA相关的肺功能不全的历史背景和基本原理,描述产前羊膜腔灌注后出生婴儿结局的现有数据,讨论围绕这种胎儿干预的伦理问题,并描述考虑进行该干预的患者产前咨询的关键方面。